Variant report

Variant	esv3377799
Chromosome Location	chr9:14859652-14862600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 222 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568240639	chr9:14859721-14859722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529195403	chr9:14859731-14859732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565596658	chr9:14859733-14859734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187446685	chr9:14859808-14859809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76774734	chr9:14859918-14859919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142234901	chr9:14859956-14859957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557988380	chr9:14859983-14859984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146747231	chr9:14859986-14859987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534111267	chr9:14859995-14859996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79230130	chr9:14860001-14860002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7867761	chr9:14860086-14860087	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs78157164	chr9:14860088-14860089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76777877	chr9:14860134-14860135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143959634	chr9:14860146-14860147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77594881	chr9:14860179-14860180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536885861	chr9:14860191-14860192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75937816	chr9:14860211-14860212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573701840	chr9:14860238-14860239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116009401	chr9:14860247-14860248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28413927	chr9:14860248-14860249	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs561956741	chr9:14860308-14860309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192710631	chr9:14860310-14860311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79710995	chr9:14860326-14860327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568880747	chr9:14860370-14860371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533142263	chr9:14860392-14860393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551782703	chr9:14860396-14860397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28433528	chr9:14860402-14860403	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs534344776	chr9:14860447-14860448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555640138	chr9:14860455-14860456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75988783	chr9:14860519-14860520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538511140	chr9:14860524-14860525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140951231	chr9:14860540-14860541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201277636	chr9:14860541-14860542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376562132	chr9:14860544-14860545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370301840	chr9:14860547-14860548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545457910	chr9:14860549-14860550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112529361	chr9:14860554-14860555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199700426	chr9:14860558-14860559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367817746	chr9:14860561-14860562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542407557	chr9:14860566-14860567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200296362	chr9:14860580-14860581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201269093	chr9:14860584-14860585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572839671	chr9:14860592-14860593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77771959	chr9:14860598-14860599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199832100	chr9:14860614-14860615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540330085	chr9:14860624-14860625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185079155	chr9:14860627-14860628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376042062	chr9:14860639-14860640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149186441	chr9:14860651-14860652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370367681	chr9:14860656-14860657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14807400-14868600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:14833400-14860600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:14843400-14868800	Weak transcription	Pancreas	Pancrea
4	chr9:14849600-14869000	Weak transcription	Small Intestine	intestine
5	chr9:14850200-14869000	Weak transcription	Fetal Brain Male	brain
6	chr9:14851600-14863800	Weak transcription	Colon Smooth Muscle	Colon
7	chr9:14853200-14868800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:14856800-14859800	Strong transcription	Fetal Kidney	kidney
9	chr9:14857000-14860200	Strong transcription	Fetal Lung	lung
10	chr9:14857200-14860000	Strong transcription	Fetal Muscle Trunk	muscle
11	chr9:14857800-14865200	Weak transcription	Fetal Stomach	stomach
12	chr9:14858000-14860400	Strong transcription	HepG2	liver
13	chr9:14858200-14868600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:14859400-14863600	Weak transcription	Adipose Nuclei	Adipose
15	chr9:14859400-14863600	Weak transcription	Fetal Intestine Large	intestine
16	chr9:14859600-14865800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr9:14859600-14868800	Weak transcription	Aorta	Aorta
18	chr9:14859600-14869600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr9:14859600-14876600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:14859800-14864600	Weak transcription	Fetal Kidney	kidney
21	chr9:14860000-14883800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr9:14860200-14862000	Weak transcription	Fetal Lung	lung
23	chr9:14860400-14861800	Weak transcription	HepG2	liver
24	chr9:14860600-14861600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:14861600-14863600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:14861800-14863600	Genic enhancers	HepG2	liver
27	chr9:14862000-14862800	Strong transcription	Fetal Lung	lung

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